| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKR7A2
|
aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
AMELY
|
amelogenin, Y-linked
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANO2
|
anoctamin 2, calcium activated chloride channel
|
|
ANOS1
|
anosmin 1
|
|
APC
|
adenomatous polyposis coli
|
|
APOBEC3A
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A
|
|
APOBEC3B
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B
|
|
ASTN2
|
astrotactin 2
|
|
ATG12
|
autophagy related 12
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
ATXN1
|
ataxin 1
|
|
AUTS2
|
autism susceptibility candidate 2
|
|
AXIN1
|
axin 1
|
|
AZF1
|
azoospermia factor 1
|
|
B2M
|
beta-2-microglobulin
|
|
BACE1
|
beta-site APP-cleaving enzyme 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAX
|
BCL2-associated X protein
|
|
BCHE
|
butyrylcholinesterase
|
|
BCL6
|
B-cell CLL/lymphoma 6
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BNIP3L
|
BCL2/adenovirus E1B 19kDa interacting protein 3-like
|
|
BOLL
|
boule-like RNA-binding protein
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BRK1
|
BRICK1, SCAR/WAVE actin-nucleating complex subunit
|
|
BTD
|
biotinidase
|
|
BTG1
|
B-cell translocation gene 1, anti-proliferative
|
|
BTG2
|
BTG family, member 2
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C3
|
complement component 3
|
|
C8ORF4
|
chromosome 8 open reading frame 4
|
|
CABLES1
|
Cdk5 and Abl enzyme substrate 1
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CCL15
|
chemokine (C-C motif) ligand 15
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CCND1
|
cyclin D1
|
|
CD40LG
|
CD40 ligand
|
|
CD46
|
CD46 molecule, complement regulatory protein
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2C
|
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
|
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
|
CDY1
|
chromodomain protein, Y-linked, 1
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CFH
|
complement factor H
|
|
CFHR1
|
complement factor H-related 1
|
|
CFHR3
|
complement factor H-related 3
|
|
CFHR4
|
complement factor H-related 4
|
|
CFI
|
complement factor I
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CGNL1
|
cingulin-like 1
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHD3
|
chromodomain helicase DNA binding protein 3
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CITED4
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL4A6
|
collagen, type IV, alpha 6
|
|
COX2
|
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRLF2
|
cytokine receptor-like factor 2
|
|
CSMD1
|
CUB and Sushi multiple domains 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CUL1
|
cullin 1
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP2A6
|
cytochrome P450, family 2, subfamily A, polypeptide 6
|
|
DAZ1
|
deleted in azoospermia 1
|
|
DAZL
|
deleted in azoospermia-like
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DCX
|
doublecortin
|
|
DEL22Q11.2
|
Chromosome 22q11.2 deletion syndrome, distal
|
|
DES
|
desmin
|
|
DMD
|
dystrophin
|
|
DOCK4
|
dedicator of cytokinesis 4
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DPP6
|
dipeptidyl-peptidase 6
|
|
DPY19L2
|
dpy-19-like 2 (C. elegans)
|
|
DPY30
|
dpy-30 homolog (C. elegans)
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DSPP
|
dentin sialophosphoprotein
|
|
DYNC1I1
|
dynein, cytoplasmic 1, intermediate chain 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ENG
|
endoglin
|
|
EP300
|
E1A binding protein p300
|
|
EPB41
|
erythrocyte membrane protein band 4.1
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPHA7
|
EPH receptor A7
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
ETV6
|
ets variant 6
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FBN1
|
fibrillin 1
|
|
FBXO11
|
F-box protein 11
|
|
FBXW7
|
F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
|
|
FECH
|
ferrochelatase
|
|
FGF13
|
fibroblast growth factor 13
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FH
|
fumarate hydratase
|
|
FHIT
|
fragile histidine triad
|
|
FLCN
|
folliculin
|
|
FLNC
|
filamin C, gamma
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FOXC1
|
forkhead box C1
|
|
FOXF1
|
forkhead box F1
|
|
FOXG1
|
forkhead box G1
|
|
FOXL2
|
forkhead box L2
|
|
FOXP1
|
forkhead box P1
|
|
FRMD7
|
FERM domain containing 7
|
|
FSHMD1A
|
facioscapulohumeral muscular dystrophy 1A
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GALC
|
galactosylceramidase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GATA4
|
GATA binding protein 4
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCKR
|
glucokinase (hexokinase 4) regulator
|
|
GDE1
|
glycerophosphodiester phosphodiesterase 1
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GH1
|
growth hormone 1
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GK
|
glycerol kinase
|
|
GLA
|
galactosidase, alpha
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GPC3
|
glypican 3
|
|
GPHN
|
gephyrin
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR148
|
G protein-coupled receptor 148
|
|
GRIA4
|
glutamate receptor, ionotropic, AMPA 4
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GSK3A
|
glycogen synthase kinase 3 alpha
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
GTF2I
|
general transcription factor IIi
|
|
H2AFX
|
H2A histone family, member X
|
|
HAS1
|
hyaluronan synthase 1
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HIP1
|
huntingtin interacting protein 1
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HMGCS2
|
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
|
|
HMX2
|
H6 family homeobox 2
|
|
HMX3
|
H6 family homeobox 3
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HP
|
haptoglobin
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HSFY1
|
heat shock transcription factor, Y-linked 1
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
ID4
|
inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGH
|
immunoglobulin heavy locus
|
|
IGSF1
|
immunoglobulin superfamily, member 1
|
|
IKZF1
|
IKAROS family zinc finger 1 (Ikaros)
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IL2
|
interleukin 2
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL6
|
interleukin 6
|
|
INTS6
|
integrator complex subunit 6
|
|
IRF1
|
interferon regulatory factor 1
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGA5
|
integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAK2
|
Janus kinase 2
|
|
JARID2
|
jumonji, AT rich interactive domain 2
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KISS1R
|
KISS1 receptor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
L3MBTL1
|
l(3)mbt-like 1 (Drosophila)
|
|
LCE3B
|
late cornified envelope 3B
|
|
LCE3C
|
late cornified envelope 3C
|
|
LDLR
|
low density lipoprotein receptor
|
|
LGI2
|
leucine-rich repeat LGI family, member 2
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LINC00474
|
long intergenic non-protein coding RNA 474
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LOC647859
|
occludin pseudogene
|
|
LOX
|
lysyl oxidase
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAGI2
|
membrane associated guanylate kinase, WW and PDZ domain containing 2
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECOM
|
MDS1 and EVI1 complex locus
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MID1
|
midline 1
|
|
MIR15A
|
microRNA 15a
|
|
MIR16-1
|
microRNA 16-1
|
|
MIR34A
|
microRNA 34a
|
|
MIR34B
|
microRNA 34b
|
|
MIR34C
|
microRNA 34c
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLH1
|
mutL homolog 1
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MSH2
|
mutS homolog 2
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MUTYH
|
mutY homolog
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYCL
|
v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYEOV
|
myeloma overexpressed
|
|
MYO15A
|
myosin XVA
|
|
MYO7A
|
myosin VIIA
|
|
MYT1L
|
myelin transcription factor 1-like
|
|
NAIP
|
NLR family, apoptosis inhibitory protein
|
|
NEGR1
|
neuronal growth regulator 1
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NHEJ1
|
nonhomologous end-joining factor 1
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX3-1
|
NK3 homeobox 1
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR2E1
|
nuclear receptor subfamily 2, group E, member 1
|
|
NRXN1
|
neurexin 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCLN
|
occludin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPN3
|
opsin 3
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTOA
|
otoancorin
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX3
|
paired box 3
|
|
PAX5
|
paired box 5
|
|
PAX6
|
paired box 6
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCDH15
|
protocadherin-related 15
|
|
PCDH19
|
protocadherin 19
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDLIM4
|
PDZ and LIM domain 4
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX1
|
paired-like homeodomain 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLCG2
|
phospholipase C, gamma 2 (phosphatidylinositol-specific)
|
|
PLCH2
|
phospholipase C, eta 2
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POLK
|
polymerase (DNA directed) kappa
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP2R2A
|
protein phosphatase 2, regulatory subunit B, alpha
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRDM2
|
PR domain containing 2, with ZNF domain
|
|
PRDM9
|
PR domain containing 9
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRNP
|
prion protein
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROS1
|
protein S (alpha)
|
|
PROX1
|
prospero homeobox 1
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRSS3P2
|
protease, serine, 3 pseudogene 2
|
|
PSEN1
|
presenilin 1
|
|
PSG11
|
pregnancy specific beta-1-glycoprotein 11
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RB1
|
retinoblastoma 1
|
|
RBFOX1
|
RNA binding protein, fox-1 homolog (C. elegans) 1
|
|
RBMX
|
RNA binding motif protein, X-linked
|
|
RCN1
|
reticulocalbin 1, EF-hand calcium binding domain
|
|
REEP1
|
receptor accessory protein 1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RNF139
|
ring finger protein 139
|
|
RORA
|
RAR-related orphan receptor A
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RPL35A
|
ribosomal protein L35a
|
|
RPL5
|
ribosomal protein L5
|
|
RPS14
|
ribosomal protein S14
|
|
RPS17
|
ribosomal protein S17
|
|
RPS19
|
ribosomal protein S19
|
|
RPS26
|
ribosomal protein S26
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RS1
|
retinoschisin 1
|
|
RUNX1
|
runt-related transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN3A
|
sodium channel, voltage gated, type III alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SETX
|
senataxin
|
|
SFTPA1
|
surfactant protein A1
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHANK2
|
SH3 and multiple ankyrin repeat domains 2
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHC2
|
SHC (Src homology 2 domain containing) transforming protein 2
|
|
SHOX
|
short stature homeobox
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC18A3
|
solute carrier family 18 (vesicular acetylcholine transporter), member 3
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNX3
|
sorting nexin 3
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPAST
|
spastin
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SRGAP3
|
SLIT-ROBO Rho GTPase activating protein 3
|
|
STK11
|
serine/threonine kinase 11
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STX16
|
syntaxin 16
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SULT1A1
|
sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
|
|
SUOX
|
sulfite oxidase
|
|
TBX1
|
T-box 1
|
|
TBX3
|
T-box 3
|
|
TBX5
|
T-box 5
|
|
TCF4
|
transcription factor 4
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TFRC
|
transferrin receptor
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
THBD
|
thrombomodulin
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLX1
|
T-cell leukemia homeobox 1
|
|
TLX3
|
T-cell leukemia homeobox 3
|
|
TNFAIP3
|
tumor necrosis factor, alpha-induced protein 3
|
|
TNFRSF8
|
tumor necrosis factor receptor superfamily, member 8
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TOP2A
|
topoisomerase (DNA) II alpha 170kDa
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP53
|
tumor protein p53
|
|
TP73
|
tumor protein p73
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTN
|
titin
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TXNL4A
|
thioredoxin-like 4A
|
|
TYR
|
tyrosinase
|
|
UBE2B
|
ubiquitin-conjugating enzyme E2B
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE4B
|
ubiquitination factor E4B
|
|
UGT2B17
|
UDP glucuronosyltransferase 2 family, polypeptide B17
|
|
UNC5C
|
unc-5 homolog C (C. elegans)
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VPREB1
|
pre-B lymphocyte 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
XRCC4
|
X-ray repair complementing defective repair in Chinese hamster cells 4
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
|
ZEB1
|
zinc finger E-box binding homeobox 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFHX3
|
zinc finger homeobox 3
|
|
ZIC1
|
Zic family member 1
|
|
ZIC4
|
Zic family member 4
|
|
ZNF630
|
zinc finger protein 630
|
|
ZNF674
|
zinc finger protein 674
|
